Canonical Allele Identifier: CA10621045

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 348797
• ClinVar RCV Id: RCV000312369 ; RCV000395137
• dbSNP Id: rs73139116
• gnomAD v2: 4-41747224-A-C
• gnomAD v3: 4-41745207-A-C
• gnomAD v4: 4-41745207-A-C
• MyVariant Identifiers: chr4:g.41747224A>C (hg19) ; chr4:g.41745207A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745207A>C , CM000666.2:g.41745207A>C	GRCh38
NC_000004.11:g.41747224A>C , CM000666.1:g.41747224A>C	GRCh37
NC_000004.10:g.41441981A>C	NCBI36
NG_008243.1:g.8764T>G , LRG_513:g.8764T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.*600T>G MANE Select	ENSP00000226382.2:n.*600T>G
ENST00000226382.3:c.*600T>G	ENSP00000226382.2:n.*600T>G
NM_003924.3:c.*600T>G , LRG_513t1:c.*600T>G	NP_003915.2:n.*600T>G
NM_003924.4:c.*600T>G MANE Select	NP_003915.2:n.*600T>G